Clinical presentation and diagnosis of primary gastrointestinal lymphomas

Primary lymphomas of the gastrointestinal (GI) tract are lymphomas that predominantly involve any section of the GI tract. While the disease involves a single primary site, multiple sites within the GI tract may be involved, as can local and distant lymph nodes.

The GI tract is the most common site of primary extranodal lymphoma and the vast majority are non-Hodgkin lymphomas. The most common site of involvement is the stomach (70 percent) followed by the small bowel, colon, rectum, and esophagus.

The presenting symptoms, appropriate investigation, and pathology vary by site of disease:

●Gastric lymphoma is the most common site of GI lymphoma and typically presents with nonspecific symptoms such as epigastric pain or discomfort, anorexia, weight loss, nausea and/or vomiting, occult GI bleeding, and/or early satiety. The diagnosis is usually established during upper endoscopy with biopsy. The vast majority (greater than 90 percent) of gastric lymphomas are approximately equally divided between extranodal marginal zone B cell lymphoma of mucosa (gut)-associated lymphoid tissue (MALT) type and diffuse large B cell lymphoma. The remaining cases may represent any histology. 

●Lymphoma of the small intestine is the second most common site and the clinical presentation varies depending upon whether the tumor is associated with immunoproliferative small intestinal disease (IPSID), celiac disease (enteropathy-associated T cell lymphoma, EATL), or neither. The diagnosis may be suggested on computed tomography (CT), but requires a biopsy for confirmation. The most common histologic types include IPSID-related lymphoma, EATL, diffuse large B cell lymphoma, mantle cell lymphoma, Burkitt lymphoma, and follicular lymphoma.

●Colorectal lymphoma is an uncommon form of GI lymphoma and may present with abdominal pain, overt or occult bleeding, diarrhea, intussusception, or rarely, bowel obstruction. Colonoscopy with biopsy is the principal diagnostic modality for colorectal lymphomas. The most common histologies include diffuse large B cell lymphoma, mantle cell lymphoma, and Burkitt lymphoma. 

●Esophageal lymphoma is perhaps the most uncommon site for primary GI lymphoma and appears to more commonly involve the distal esophagus. Most patients are asymptomatic or present with complaints of dysphagia or odynophagia. There is a diverse appearance on imaging and the diagnosis is made by endoscopic biopsy in most cases.